腺苷酸琥珀酸裂解酶抗体 Adenylosuccinate Lyase

腺苷酸琥珀酸裂解酶抗体

规格：1mg/1ml

英文名： Adenylosuccinate Lyase

别名： Adenylosuccinase; Adenylosuccinate lyase; ADSL; AMPS; ASase; ASL; PUR8_HUMAN.

分子量： 55kDa

储存液：0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glyce

克隆类型：Polyclonal

亚型：IgG

纯化方法：affinity purified by Protein A

**原：KLH conjugated synthetic peptide derived from human Adenylos

交叉反应：Human, Mouse, Rat, Dog, Pig, Cow, Horse,

细胞定位：

腺苷酸琥珀酸裂解酶抗体产品介绍：background: Adenylsuccinate lyase is involved in both de novo synthesis of purines and formation of adenosine monophosphate from inosine monophosphate. It catalyzes two reactions in AMP biosynthesis: the removal of a fumarate from succinylaminoimidazole carboxamide (SAICA) ribotide to give aminoimidazole carboxamide ribotide (AICA) and removal of fumarate from adenylosuccinate to give AMP. Adenylosuccinase deficiency results in succinylpurinemic autism, psychomotor retardation, and , in some cases, growth retardation associated with muscle wasting and epilepsy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. Tissue Specificity: Ubiquitously expressed. Both isoforms are produced by all tissues. Isoform 2 is 10-fold less abundant than isoform 1. DISEASE: Defects in ADSL are the cause of adenylosuccinase deficiency (ADSL deficiency) . ADSL deficiency is腺苷酸琥珀酸裂解酶抗体 an autosomal recessive disorder characterized by the accumulation in the body fluids of succinylaminoimidazole-carboxamide riboside (SAICA-riboside) and succinyladenosine (S-Ado). Most children display marked psychomotor delay, often accompanied by epilepsy or autistic features, or both, although some patients may be less profoundly retarded. Occasionally, growth retardation and muscular wasting are also 腺苷酸琥珀酸裂解酶抗体present. Similarity: Belongs to the lyase 1 family. Adenylosuccinate lyase subfamily. Gene ID: 158 Database links: Entrez Gene: 158 Human Entrez Gene: 11564 Mouse Entrez Gene: 315150 Rat Omim: 608222 Human SwissProt: P30566 Human SwissProt: P54822 Mouse Unigene: 75527 Human Unigene: 38151 Mouse Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.

腺苷酸琥珀酸裂解酶抗体产品应用：WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 IF=1:100-500 （石蜡切片需做抗原修复） not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user.

研究领域：细胞生物  信号转导  

储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.

来源： Rabbit

外观： Lyophilized or Liquid